rs80358928

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6	BRCA2 variant considered pathogenic for breast cancer

Make rs80358928(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32354877

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358928
dbSNP (classic)	rs80358928
ClinGen	rs80358928
ebi	rs80358928
HLI	rs80358928
Exac	rs80358928
Gnomad	rs80358928
Varsome	rs80358928
LitVar	rs80358928
Map	rs80358928
PheGenI	rs80358928
Biobank	rs80358928
1000 genomes	rs80358928
hgdp	rs80358928
ensembl	rs80358928
geneview	rs80358928
scholar	rs80358928
google	rs80358928
pharmgkb	rs80358928
gwascentral	rs80358928
openSNP	rs80358928
23andMe	rs80358928
SNPshot	rs80358928
SNPdbe	rs80358928
MSV3d	rs80358928
GWAS Ctlg	rs80358928

Max Magnitude

6

rs80358928, also known as Q2342X, c.7024C>T and p.Gln2342Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358928(T;T)
Alt	rs80358928(T;T)
Reference	Rs80358928(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32929014C>T
CLNSRC	ClinVar
CLNACC	RCV000045122.4, RCV000077396.5, RCV000215667.1,